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Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage
A H Lipson1, A E Kan, K Kozlowski
1Birth Defects Unit, Children's Hospital, Camperdown, Sydney, Australia.
Abstract:
"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.
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